Incidental Mutation 'R7902:Gapdhs'
| ID |
610042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gapdhs
|
| Ensembl Gene |
ENSMUSG00000061099 |
| Gene Name |
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic |
| Synonyms |
Gapd-s, Gapds |
| MMRRC Submission |
045954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30429204-30443106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30436146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 148
(Y148C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074758]
[ENSMUST00000182067]
[ENSMUST00000182634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074758
AA Change: Y146C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
AA Change: Y146C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
106 |
254 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
259 |
416 |
2.3e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182067
|
| SMART Domains |
Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VYV|D
|
1 |
44 |
3e-15 |
PDB |
|
Blast:Gp_dh_N
|
4 |
33 |
9e-7 |
BLAST |
|
SCOP:d1cf2o2
|
9 |
45 |
3e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182634
AA Change: Y148C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
AA Change: Y148C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
48 |
N/A |
INTRINSIC |
|
Gp_dh_N
|
108 |
256 |
6.13e-79 |
SMART |
|
Pfam:Gp_dh_C
|
261 |
418 |
4.4e-77 |
PFAM |
|
| Meta Mutation Damage Score |
0.8588 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamts14 |
T |
C |
10: 61,041,176 (GRCm39) |
S842G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,562,654 (GRCm39) |
I1108T |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,548,863 (GRCm39) |
M2161L |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,364,832 (GRCm39) |
I1647T |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,350,156 (GRCm39) |
C41* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,439,964 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
C |
T |
6: 108,831,338 (GRCm39) |
R600W |
possibly damaging |
Het |
| F13a1 |
C |
A |
13: 37,172,913 (GRCm39) |
G156W |
probably damaging |
Het |
| Foxk2 |
A |
G |
11: 121,190,553 (GRCm39) |
T565A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,168 (GRCm39) |
I1496F |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,690,197 (GRCm39) |
|
probably null |
Het |
| H1f3 |
T |
C |
13: 23,739,505 (GRCm39) |
I81T |
probably damaging |
Het |
| Hddc2 |
A |
T |
10: 31,192,289 (GRCm39) |
R64S |
probably damaging |
Het |
| Hddc2 |
T |
A |
10: 31,196,338 (GRCm39) |
|
probably null |
Het |
| Klk10 |
T |
A |
7: 43,432,942 (GRCm39) |
S113T |
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,159,843 (GRCm39) |
S52P |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,466,615 (GRCm39) |
T763A |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,482 (GRCm39) |
I363N |
possibly damaging |
Het |
| Oat |
C |
T |
7: 132,161,393 (GRCm39) |
V381I |
probably benign |
Het |
| Or52n2c |
A |
G |
7: 104,574,557 (GRCm39) |
L138P |
probably damaging |
Het |
| Plpp2 |
A |
T |
10: 79,363,378 (GRCm39) |
I207N |
possibly damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,679 (GRCm39) |
E522G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,441,628 (GRCm39) |
V63A |
probably benign |
Het |
| Sgf29 |
C |
T |
7: 126,271,350 (GRCm39) |
R209C |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,086,048 (GRCm39) |
A1220V |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,902 (GRCm39) |
E1055G |
|
Het |
| Vmn1r158 |
A |
T |
7: 22,489,433 (GRCm39) |
C259S |
possibly damaging |
Het |
| Vmn2r120 |
T |
G |
17: 57,816,244 (GRCm39) |
I704L |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,329,731 (GRCm39) |
S1188G |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,535 (GRCm39) |
K653E |
probably damaging |
Het |
| Zfp933 |
T |
A |
4: 147,911,058 (GRCm39) |
R179S |
probably damaging |
Het |
| Zfp937 |
A |
T |
2: 150,080,681 (GRCm39) |
H237L |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
|
| Other mutations in Gapdhs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Gapdhs
|
APN |
7 |
30,429,866 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01667:Gapdhs
|
APN |
7 |
30,436,062 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02860:Gapdhs
|
APN |
7 |
30,429,308 (GRCm39) |
splice site |
probably null |
|
|
IGL02878:Gapdhs
|
APN |
7 |
30,429,304 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03372:Gapdhs
|
APN |
7 |
30,432,674 (GRCm39) |
unclassified |
probably benign |
|
|
R1662:Gapdhs
|
UTSW |
7 |
30,436,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Gapdhs
|
UTSW |
7 |
30,429,333 (GRCm39) |
splice site |
probably null |
|
|
R4941:Gapdhs
|
UTSW |
7 |
30,432,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5059:Gapdhs
|
UTSW |
7 |
30,431,410 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5877:Gapdhs
|
UTSW |
7 |
30,431,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Gapdhs
|
UTSW |
7 |
30,437,383 (GRCm39) |
missense |
unknown |
|
|
R7622:Gapdhs
|
UTSW |
7 |
30,438,756 (GRCm39) |
missense |
unknown |
|
|
R7714:Gapdhs
|
UTSW |
7 |
30,431,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Gapdhs
|
UTSW |
7 |
30,437,335 (GRCm39) |
missense |
unknown |
|
|
R8954:Gapdhs
|
UTSW |
7 |
30,432,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Gapdhs
|
UTSW |
7 |
30,431,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACCTTTCTGAGACCCTC -3'
(R):5'- TCCAGAATACATGGTGAGCAG -3'
Sequencing Primer
(F):5'- CTCTCTAAACAGTACCTAGAGGCATG -3'
(R):5'- TACATGGTGAGCAGATGGAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation